K28Q (p.Lys28Gln) variant of CYP2C19 (Cytochrome P450 2C19)
K28Q (p.Lys28Gln) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- ExAC rs762085479
- TOPMed rs762085479
- gnomAD rs762085479
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -0.98
- CADD 15.50
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.99